Variant report

Variant	rs7000759
Chromosome Location	chr8:124528676-124528677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124525228..124528986-chr8:124549190..124552536,4	MCF-7	breast:
2	chr8:124527950..124529470-chr8:124546370..124548272,2	MCF-7	breast:
3	chr8:124522912..124526262-chr8:124527454..124531580,5	K562	blood:
4	chr8:124526109..124530127-chr8:124530689..124534249,3	MCF-7	breast:
5	chr8:124528561..124530260-chr8:124550989..124553746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11986010	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986300	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992825	1.00[ASN][1000 genomes]
rs11996069	1.00[ASN][1000 genomes]
rs13439060	1.00[ASN][1000 genomes]
rs57385663	1.00[ASN][1000 genomes]
rs59488911	1.00[ASN][1000 genomes]
rs62520915	1.00[ASN][1000 genomes]
rs62521280	1.00[ASN][1000 genomes]
rs62521282	1.00[ASN][1000 genomes]
rs62521283	1.00[ASN][1000 genomes]
rs7006420	1.00[ASN][1000 genomes]
rs9650084	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124510200-124549200	Weak transcription	Fetal Brain Male	brain
2	chr8:124510400-124531800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:124512000-124542200	Weak transcription	Liver	Liver
4	chr8:124512200-124529000	Weak transcription	Colonic Mucosa	Colon
5	chr8:124512400-124532600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:124513400-124529000	Genic enhancers	Colon Smooth Muscle	Colon
7	chr8:124513800-124529000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:124514000-124529200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:124514200-124529400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:124515600-124543600	Weak transcription	Brain Germinal Matrix	brain
11	chr8:124516200-124528800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:124518800-124529000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:124518800-124529000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:124519000-124529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:124519400-124532600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:124520800-124532400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:124520800-124542200	Weak transcription	Lung	lung
18	chr8:124523600-124529000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:124524600-124529000	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:124525000-124529400	Enhancers	Brain Substantia Nigra	brain
21	chr8:124525000-124530400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:124525200-124528800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:124525400-124529400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:124525800-124529000	Weak transcription	Esophagus	oesophagus
25	chr8:124525800-124529000	Weak transcription	Pancreas	Pancrea
26	chr8:124525800-124542400	Weak transcription	Fetal Brain Female	brain
27	chr8:124526200-124529000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:124526400-124529000	Enhancers	Brain Hippocampus Middle	brain
29	chr8:124526400-124529000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:124526400-124537600	Weak transcription	Gastric	stomach
31	chr8:124526600-124532200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:124526800-124529000	Weak transcription	Primary T cells from cord blood	blood
33	chr8:124526800-124529000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:124527200-124529000	Weak transcription	K562	blood
35	chr8:124527400-124531600	Enhancers	Fetal Heart	heart
36	chr8:124527800-124529000	Weak transcription	NHEK	skin
37	chr8:124528000-124529800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:124528000-124529800	Enhancers	Aorta	Aorta
39	chr8:124528000-124530200	Enhancers	Brain Angular Gyrus	brain
40	chr8:124528200-124528800	Enhancers	HSMMtube	muscle
41	chr8:124528200-124529000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:124528200-124529400	Enhancers	Left Ventricle	heart
43	chr8:124528200-124530600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:124528200-124531400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:124528400-124528800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:124528400-124528800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:124528400-124528800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:124528400-124529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:124528400-124529000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:124528400-124529000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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